A family showing recessively inherited multisystem pathology with aberrant splicing of the erythrocyte Band 7.2b ('stomatin') gene.
D017398:Alternative Splicing; D001773:Blood Cells / Q000473:pathology; D001798:Blood Proteins / Q000172:deficiency* / Q000235:genetics*; D002552:Cerebral Ventricles / Q000473:pathology; D002675:Child, Preschool; D004274:DNA, Recombinant; D017809:Fatal Outcome; D005784:Gene Amplification; D005808:Genes, Recessive; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency* / Q000235:genetics*; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D013902:Radiography, Thoracic
D001798:Blood Proteins; D004274:DNA, Recombinant; D008565:Membrane Proteins; C036860:STOM protein, human